What is glutaric aciduria type1?
Glutaric aciduria type 1 (GA1) is a rare but serious inherited condition. It means the body can’t process certain amino acids (“building blocks” of protein), causing a harmful build-up of substances in the blood and urine.
What causes glutaric acidemia?
Large amounts of glutaric acid in the blood and urine are caused by a deficiency of the enzyme multiple acyl-CoA dehydrogenase.
What is glutaric aciduria type 2?
Glutaric aciduria type II (GAII) is one of the conditions termed organic acidemias. Individuals with these conditions have a deficiency or absence of an enzyme that prevents the breakdown of certain chemicals (proteins and fats) in the body, resulting in the accumulation of several organic acids in the blood and urine.
What disease is GA?
Glutaric acidemia, type I (GA-1) is an inherited condition in which the body is unable to break down certain proteins properly. It is considered an organic acid condition because GA-1 can lead to a harmful amount of organic acids and toxins in the body.
Is glutaric acid a fatty acid?
Glutaric acid is an alpha,omega-dicarboxylic acid that is a linear five-carbon dicarboxylic acid. It has a role as a human metabolite and a Daphnia magna metabolite. It is an alpha,omega-dicarboxylic acid and a dicarboxylic fatty acid.
What is c5dc?
Clinical Information An isolated elevation of glutarylcarnitine (C5-DC) in plasma or newborn screening blood spots is related to a diagnosis of glutaric aciduria type 1 (GA-1), also known as glutaric acidemia type 1. GA-1 is caused by a deficiency of glutaryl-CoA dehydrogenase.
How do you test for glutaric acidemia?
In patients with signs and symptoms of glutaric aciduria type I, a specific diagnostic work-up should include quantitative analysis of GA and 3-OH-GA in urine or blood, GCDH gene mutation analysis, and/or enzyme analysis (grade D).
What is glutaric acid found in?
Glutaric acid is a metabolite found in Escherichia coli (strain K12, MG1655).
How is glutaric acid made?
Glutaric acid can be prepared by the ring-opening of butyrolactone with potassium cyanide to give the mixed potassium carboxylate-nitrile that is hydrolyzed to the diacid. Alternatively hydrolysis, followed by oxidation of dihydropyran gives glutaric acid.
What is Glutarylcarnitine c5dc?
Elevated excretion of glutarylcarnitine is a specific biochemical marker of glutaric aciduria type 1 that is elevated in affected patients, apparently even in low excretors, ie, those affected individuals with normal levels of glutaric acid in urine.
What is C5 DC?
Test Catalog Urine C5-DC is a biochemical marker of GA-1 that appears to be elevated even in low excretors, who are affected patients with normal levels of glutaric acid in urine.
What is Niemann-Pick Disease Type c1?
Niemann-Pick disease type C (NPC) is a rare progressive genetic disorder characterized by an inability of the body to transport cholesterol and other fatty substances (lipids) inside of cells. This leads to the abnormal accumulation of these substances within various tissues of the body, including brain tissue.
How common is medium chain acyl CoA dehydrogenase deficiency?
Frequency. In the United States, the estimated incidence of MCAD deficiency is 1 in 17,000 people. The condition is more common in people of northern European ancestry than in other ethnic groups.
What is glutaric acid used for?
Glutaric acid is an important dicarboxylic acid used in the synthesis of commercial polymers.
Is glutaric acid an organic acid?
Glutaric acid is the organic compound with the formula C3H6(COOH)2 . Although the related “linear” dicarboxylic acids adipic and succinic acids are water-soluble only to a few percent at room temperature, the water-solubility of glutaric acid is over 50% (w/w).